rs7126629

Variant names:

• chr11-2207722-C-A
• rs7126629

Your query was ambiguous. Multiple possible variants found:

• chr11-2207722-C-A
• chr11-2207722-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.74 in 152,018 control chromosomes in the GnomAD database, including 42,488 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.74 (42488 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.44

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.87 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.741 AC: 112517 AN: 151900 Hom.: 42491 Cov.: 32

Gnomad AFR AF: 0.586

Gnomad AMI AF: 0.764

Gnomad AMR AF: 0.745

Gnomad ASJ AF: 0.770

Gnomad EAS AF: 0.891

Gnomad SAS AF: 0.777

Gnomad FIN AF: 0.746

Gnomad MID AF: 0.812

Gnomad NFE AF: 0.816

Gnomad OTH AF: 0.779

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.740 AC: 112553 AN: 152018 Hom.: 42488 Cov.: 32 AF XY: 0.741 AC XY: 55050 AN XY: 74298

Gnomad4 AFR AF: 0.585

Gnomad4 AMR AF: 0.745

Gnomad4 ASJ AF: 0.770

Gnomad4 EAS AF: 0.892

Gnomad4 SAS AF: 0.777

Gnomad4 FIN AF: 0.746

Gnomad4 NFE AF: 0.816

Gnomad4 OTH AF: 0.781

Alfa AF: 0.783 Hom.: 8233

Bravo AF: 0.732

Asia WGS AF: 0.800 AC: 2783 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.068
DANN	Benign	0.55

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs7126629; hg19: chr11-2228952;